Varaico: Literature-Extracted Genetic Variants

ABCB11

787 papers

RefSeq Summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellula...

Pfam Domains

ABC_membraneaa 62–371UCSCABC transporter transmembrane region

ABC_tranaa 438–587UCSCABC transporter

ABC_membraneaa 755–1029UCSCABC transporter transmembrane region

ABC_tranaa 1096–1247UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily B member 11

HGNC Previous Symbols

BSEP; PFIC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003742.4

p.A459V

c.1376C>T

Surrounding Variants

1 paper

NM_003742.4

p.A459D

c.1376C>A

1 paper

NM_003742.4

p.A459A

c.1377T>G

3 papers

NM_003742.4

p.S457_G458ins0

c.1370_1372dupGTG

1 paper

NM_003742.4

p.G458R

c.1372G>C

1 paper

NM_003742.4

p.G458R

c.1372G>A

1 paper

NM_003742.4

p.G460G

c.1380A>G

15 papers

NM_003742.4

p.K461E

c.1381A>G

1 paper

NM_003742.4

p.S457N

c.1370G>A

1 paper

NM_003742.4

p.S457fs

c.1369_1370fs

1 paper

NM_003742.4

p.P456delFs

c.1366delG

3 papers

NM_003742.4

p.S462R

c.1384A>C

2 papers

NM_003742.4

p.P456L

c.1367C>T